Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518122
rs1057518122
RPGRIP1
1.000 0.040 14 21334710 splice region variant G/A snv 8.8E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1554347012
rs1554347012
AHI1
1.000 0.040 6 135442577 splice region variant C/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1556313552
rs1556313552
RP2
0.925 0.080 X 46837202 splice region variant G/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1556313557
rs1556313557
RP2
1.000 0.040 X 46837205 splice region variant A/C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs760391436
rs760391436
SLC38A8
1.000 0.040 16 84036697 splice region variant C/T snv 1.6E-05 1.4E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs773372519
rs773372519
CNGB3
0.925 0.120 8 86644689 splice region variant A/C;G snv 1.3E-05; 8.9E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs794727166
rs794727166
PDE6A
1.000 0.040 5 149884474 splice region variant C/A;T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs61751279
rs61751279
RPE65
0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs397515360
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 2 2000 2019
dbSNP: rs62645752
rs62645752
CRB1
0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs750962965
rs750962965
IQCB1
0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2005 2005
dbSNP: rs775796581
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2000 2000
dbSNP: rs781781440
rs781781440
CDHR1
0.925 0.040 10 84200685 frameshift variant -/A delins 8.4E-06; 4.2E-06 2.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019
dbSNP: rs869312175
rs869312175
CRX
1.000 0.040 19 47839715 frameshift variant C/- del
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2016 2016
dbSNP: rs121918844
rs121918844
RPE65
1.000 0.040 1 68444665 frameshift variant A/-;AA delins 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1553261468
rs1553261468
CRB1
1.000 0.040 1 197427543 frameshift variant -/C delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1554125752
rs1554125752
TULP1
0.925 0.080 6 35506146 frameshift variant -/G delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1555635925
rs1555635925
GUCY2D
1.000 0.040 17 8015981 frameshift variant -/CGTGCTCT ins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs1569531639
rs1569531639
RP2
1.000 0.040 X 46853857 frameshift variant AGGGC/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs281865175
rs281865175
CRB1
0.882 0.080 1 197477775 frameshift variant CAACTCAGGG/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834239
rs386834239
GUCY2D
1.000 0.040 17 8016448 frameshift variant -/ACCA delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834241
rs386834241
SPATA7
0.925 0.080 14 88429394 frameshift variant -/A delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834243
rs386834243
SPATA7
0.925 0.080 14 88438016 frameshift variant A/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834252
rs386834252
LCA5 ; LOC100506851
0.925 0.040 6 79489164 frameshift variant G/- delins 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs386834253
rs386834253
LCA5 ; LOC100506851
0.925 0.040 6 79487621 frameshift variant -/T delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0